IL277808B - Determination of frequency distribution of nucleotide sequence variants - Google Patents

Determination of frequency distribution of nucleotide sequence variants

Info

Publication number
IL277808B
IL277808B IL277808A IL27780820A IL277808B IL 277808 B IL277808 B IL 277808B IL 277808 A IL277808 A IL 277808A IL 27780820 A IL27780820 A IL 27780820A IL 277808 B IL277808 B IL 277808B
Authority
IL
Israel
Prior art keywords
determination
nucleotide sequence
frequency distribution
sequence variants
variants
Prior art date
Application number
IL277808A
Other languages
Hebrew (he)
Other versions
IL277808A (en
Original Assignee
Tigerq Ab
Priority date (The priority date is an assumption and is not a legal conclusion. Google has not performed a legal analysis and makes no representation as to the accuracy of the date listed.)
Filing date
Publication date
Application filed by Tigerq Ab filed Critical Tigerq Ab
Publication of IL277808A publication Critical patent/IL277808A/en
Publication of IL277808B publication Critical patent/IL277808B/en

Links

Classifications

    • GPHYSICS
    • G16INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16BBIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B20/00ICT specially adapted for functional genomics or proteomics, e.g. genotype-phenotype associations
    • G16B20/10Ploidy or copy number detection
    • CCHEMISTRY; METALLURGY
    • C12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12QMEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q1/00Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
    • C12Q1/6809Methods for determination or identification of nucleic acids involving differential detection
    • CCHEMISTRY; METALLURGY
    • C12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12QMEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q1/00Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
    • C12Q1/6813Hybridisation assays
    • C12Q1/6827Hybridisation assays for detection of mutation or polymorphism
    • GPHYSICS
    • G16INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16BBIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B20/00ICT specially adapted for functional genomics or proteomics, e.g. genotype-phenotype associations
    • G16B20/20Allele or variant detection, e.g. single nucleotide polymorphism [SNP] detection
    • GPHYSICS
    • G16INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16BBIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B30/00ICT specially adapted for sequence analysis involving nucleotides or amino acids
    • G16B30/10Sequence alignment; Homology search
    • CCHEMISTRY; METALLURGY
    • C12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12QMEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q2535/00Reactions characterised by the assay type for determining the identity of a nucleotide base or a sequence of oligonucleotides
    • GPHYSICS
    • G06COMPUTING; CALCULATING OR COUNTING
    • G06FELECTRIC DIGITAL DATA PROCESSING
    • G06F17/00Digital computing or data processing equipment or methods, specially adapted for specific functions
    • G06F17/10Complex mathematical operations
    • G06F17/18Complex mathematical operations for evaluating statistical data, e.g. average values, frequency distributions, probability functions, regression analysis

Landscapes

  • Life Sciences & Earth Sciences (AREA)
  • Chemical & Material Sciences (AREA)
  • Engineering & Computer Science (AREA)
  • Physics & Mathematics (AREA)
  • Health & Medical Sciences (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Analytical Chemistry (AREA)
  • Organic Chemistry (AREA)
  • Biotechnology (AREA)
  • General Health & Medical Sciences (AREA)
  • Biophysics (AREA)
  • Theoretical Computer Science (AREA)
  • Zoology (AREA)
  • Wood Science & Technology (AREA)
  • Molecular Biology (AREA)
  • Bioinformatics & Computational Biology (AREA)
  • Evolutionary Biology (AREA)
  • Genetics & Genomics (AREA)
  • Spectroscopy & Molecular Physics (AREA)
  • Medical Informatics (AREA)
  • General Engineering & Computer Science (AREA)
  • Biochemistry (AREA)
  • Microbiology (AREA)
  • Immunology (AREA)
  • General Physics & Mathematics (AREA)
  • Data Mining & Analysis (AREA)
  • Computational Mathematics (AREA)
  • Mathematical Physics (AREA)
  • Pure & Applied Mathematics (AREA)
  • Mathematical Optimization (AREA)
  • Mathematical Analysis (AREA)
  • Databases & Information Systems (AREA)
  • Software Systems (AREA)
  • Algebra (AREA)
  • Probability & Statistics with Applications (AREA)
  • Operations Research (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
  • Apparatus Associated With Microorganisms And Enzymes (AREA)
IL277808A 2018-04-11 2020-10-05 Determination of frequency distribution of nucleotide sequence variants IL277808B (en)

Applications Claiming Priority (2)

Application Number Priority Date Filing Date Title
SE1850405A SE541799C2 (en) 2018-04-11 2018-04-11 Determination of frequency distribution of nucleotide sequence variants
PCT/SE2019/050299 WO2019199218A1 (en) 2018-04-11 2019-04-02 Determination of frequency distribution of nucleotide sequence variants

Publications (2)

Publication Number Publication Date
IL277808A IL277808A (en) 2020-11-30
IL277808B true IL277808B (en) 2021-12-01

Family

ID=68164330

Family Applications (1)

Application Number Title Priority Date Filing Date
IL277808A IL277808B (en) 2018-04-11 2020-10-05 Determination of frequency distribution of nucleotide sequence variants

Country Status (12)

Country Link
US (1) US11205501B2 (en)
EP (1) EP3762509A4 (en)
JP (1) JP6883905B2 (en)
KR (1) KR102349023B1 (en)
CN (1) CN111936636B (en)
AU (1) AU2019253000B2 (en)
BR (1) BR112020020629A2 (en)
CA (1) CA3096353C (en)
IL (1) IL277808B (en)
SE (1) SE541799C2 (en)
SG (1) SG11202010053UA (en)
WO (1) WO2019199218A1 (en)

Families Citing this family (1)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
SE541799C2 (en) * 2018-04-11 2019-12-17 David Yudovich Determination of frequency distribution of nucleotide sequence variants

Family Cites Families (12)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
AU2005327056B2 (en) 2005-02-11 2010-09-16 Smartgene Gmbh Computer-implemented method and computer-based system for validating DNA sequencing data
EP3053073B1 (en) 2013-09-30 2019-07-03 Seven Bridges Genomics Inc. Methods and system for detecting sequence variants
WO2015173222A1 (en) * 2014-05-12 2015-11-19 Roche Diagnostics Gmbh Rare variant calls in ultra-deep sequencing
EP3167076B1 (en) * 2014-07-09 2021-11-17 Lexogen GmbH Methods and products for quantifying rna transcript variants
GB201412834D0 (en) 2014-07-18 2014-09-03 Cancer Rec Tech Ltd A method for detecting a genetic variant
US10937523B2 (en) * 2014-08-27 2021-03-02 Emory University Methods, systems and computer readable storage media for generating accurate nucleotide sequences
GB201520354D0 (en) 2015-11-18 2015-12-30 Sophia Genetics Sa A method of matching with known varients in a database
US20170270245A1 (en) * 2016-01-11 2017-09-21 Edico Genome, Corp. Bioinformatics systems, apparatuses, and methods for performing secondary and/or tertiary processing
JP6648549B2 (en) * 2016-02-19 2020-02-14 富士通株式会社 Mutation information processing apparatus, method and program
BR112019009949A2 (en) * 2016-11-16 2019-08-20 Illumina Inc computer-implemented method for validating variant calls and system for validating variant calls
WO2018144782A1 (en) * 2017-02-01 2018-08-09 The Translational Genomics Research Institute Methods of detecting somatic and germline variants in impure tumors
SE541799C2 (en) * 2018-04-11 2019-12-17 David Yudovich Determination of frequency distribution of nucleotide sequence variants

Also Published As

Publication number Publication date
KR102349023B1 (en) 2022-01-07
EP3762509A1 (en) 2021-01-13
CA3096353C (en) 2022-03-22
NZ769731A (en) 2021-10-29
WO2019199218A1 (en) 2019-10-17
AU2019253000A1 (en) 2020-11-26
IL277808A (en) 2020-11-30
SE1850405A1 (en) 2019-10-12
BR112020020629A2 (en) 2021-01-12
CA3096353A1 (en) 2019-10-17
US11205501B2 (en) 2021-12-21
CN111936636B (en) 2022-06-14
AU2019253000B2 (en) 2021-10-21
SG11202010053UA (en) 2020-11-27
JP6883905B2 (en) 2021-06-09
CN111936636A (en) 2020-11-13
EP3762509A4 (en) 2021-11-24
JP2021511820A (en) 2021-05-13
SE541799C2 (en) 2019-12-17
KR20200138821A (en) 2020-12-10
US20210020268A1 (en) 2021-01-21

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